ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685780
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131471A>T (hg19)
chr9:g.133256084A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256084A>T , CM000671.2:g.133256084A>T
GRCh38
NC_000009.11:g.136131471A>T , CM000671.1:g.136131471A>T
GRCh37
NC_000009.10:g.135121292A>T
NCBI36
NG_006669.1:g.21584T>A
NG_006669.2:g.24132T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.676T>A
ENST00000647353.1:n.54-4932T>A
ENST00000679909.1:c.28+19078T>A
ENSP00000506089.1:n.28+19078T>A
ENST00000453660.3:n.658T>A
ENST00000538324.2:c.644T>A
ENSP00000483018.1:p.Phe215Tyr
ENST00000611156.4:c.644T>A
ENSP00000483265.1:p.Phe215Tyr
NM_020469.2:c.647T>A
NP_065202.2:p.Phe216Tyr
NM_020469.3:c.647T>A
NP_065202.2:p.Phe216Tyr
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